TRIO CASE STUDY SHOWING NOVEL MUTATION IN LAMB3 GENE CA JUNCTIONAL EPIDERMOLYSIS BULLOSA [INTERMEDIATE/SEVERE]

Abstract

Background: Junctional epidermolysis Bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic condi-tions that cause the skin to be very fragile and to blister easily. It is categorized into: the Herlitz type and the Non-Herlitz type. JEB is inherited in an autosomal recessive pattern. Most common genetic mutations associated are LAMB3, COL17A1, or LAMC2, and LAMA3 genes. Case presentation: This study reports a consanguineous couple carriers for pathogenic variant for LAMB3 gene, with an affected child with a homozygous mutation in the LAMB3 gene causing Herlitz type of Junctional epidermolysis Bullosa/ Non-Herlitz type of junctional epidermolysis bullosa. Furthermore, prenatal diagnosis for the Gravida also showed the same pathogenic variant. Conclusion: For autosomal recessive genetic conditions, it is advisable to perform genetic testing for the affected individual and further parental segregation which on whole considered as a Trio whole-exome sequencing or next-generation sequencing to detect the genes associated with the disease. Depending on the type of variants involved prenatal diagnosis for the next preg-nancy and treatment or management (if available) options can be offered/discussed.